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Goldberg-Shprintzen syndrome

Just diagnosed with Goldberg-Shprintzen syndrome?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Goldberg-Shprintzen syndrome, look for clinical trials, and connect with others living with it — all in one place.

Open the full Goldberg-Shprintzen syndrome hub →

Overview

Goldberg-Shprintzen syndrome is a rare condition. Also known as GOSHS, Megacolon-microcephaly syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for Goldberg-Shprintzen syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:66629 · OMIM 609460 · ICD-10 Q87.8 · GARD 0009849

Find care for Goldberg-Shprintzen syndrome

Authoritative references for Goldberg-Shprintzen syndrome

Common questions

I was just diagnosed with Goldberg-Shprintzen syndrome — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees Goldberg-Shprintzen syndrome, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for Goldberg-Shprintzen syndrome?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Goldberg-Shprintzen syndrome, filtered to your area.

Are there clinical trials for Goldberg-Shprintzen syndrome?

Tomeko shows live, recruiting studies for Goldberg-Shprintzen syndrome from ClinicalTrials.gov on the hub.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com